HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117036_19117038dup , CM000669.2:g.19117036_19117038dup | GRCh38 |
NC_000007.13:g.19156659_19156661dup , CM000669.1:g.19156659_19156661dup | GRCh37 |
NC_000007.12:g.19123184_19123186dup | NCBI36 |
NG_008114.1:g.5642_5644dup | |
NG_008114.2:g.5642_5644dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.291_293dup MANE Select | ENSP00000242261.5:p.Gly98_Ser99insGly | |
ENST00000242261.5:c.291_293dup | ENSP00000242261.5:p.Gly98_Ser99insGly | |
ENST00000354571.5:c.88_90dup | ||
NM_000474.3:c.291_293dup | NP_000465.1:p.Gly98_Ser99insGly | |
XM_011515496.1:c.291_293dup | XP_011513798.1:p.Gly98_Ser99insGly | |
NR_149001.1:n.642_644dup | ||
NM_000474.4:c.291_293dup MANE Select | NP_000465.1:p.Gly98_Ser99insGly | |
NR_149001.2:n.606_608dup |